HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990546_45990547insCGGGG , CM000683.2:g.45990546_45990547insCGGGG | GRCh38 |
NC_000021.8:g.47410460_47410461insCGGGG , CM000683.1:g.47410460_47410461insCGGGG | GRCh37 |
NC_000021.7:g.46234888_46234889insCGGGG | NCBI36 |
NG_008674.1:g.13798_13799insCGGGG , LRG_475:g.13798_13799insCGGGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+124_1002+125insCGGGG MANE Select | ENSP00000355180.3:n.1002+124_1002+125insCGGGG | |
ENST00000361866.7:c.1002+124_1002+125insCGGGG | ENSP00000355180.3:n.1002+124_1002+125insCGGGG | |
ENST00000612273.1:c.1002+124_1002+125insCGGGG | ENSP00000483630.1:n.1002+124_1002+125insCGGGG | |
NM_001848.2:c.1002+124_1002+125insCGGGG , LRG_475t1:c.1002+124_1002+125insCGGGG | NP_001839.2:n.1002+124_1002+125insCGGGG | |
NM_001848.3:c.1002+124_1002+125insCGGGG MANE Select | NP_001839.2:n.1002+124_1002+125insCGGGG |